Patau's Syndrome Case Study

Patient C is a male with Patau’s syndrome. This syndrome is also referred to as trisomy 13. It is caused by a chromosomal abnormality, in which some or all the cells in the body contain extra genetic material from chromosome 13. The chromosomal condition is often associated with a severe intellectual disability and several physical abnormalities. Patau’s occurs in about 1 in 16,000 infants. Women of all ages have a chance of giving birth to a child with this condition, but the risk increases as the woman gets older.

Trisomy 13 is caused by the nondisjunction of chromosomes during meiosis and sometimes translocation, the rearrangement of genetic material between chromosome 13 and another chromosome. Individuals with Patau’s syndrome often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes, extra fingers or toes, a cleft lip or cleft palate, and extremely weak muscle tone. Due to the presence of several
life-threating medical conditions, many infants born with Patau’s syndrome pass away within their first days or weeks of life. Only 5-10% of children with this syndrome live past their first year. Since most of the symptoms of Patau’s syndrome are severe, there are not many treatments. However, for feeding problems, special formulas may be used and some structural defects like cleft lip and palate can be corrected through surgery. Physical therapy and speech therapy will help the affected individual as well.
The U.S.
National Library of Medicine is a great resource to further understand the cause of trisomy 13. It fully explains the genetic changes that occur and the inheritance pattern of the defect. If additional information is needed to fully understand the condition, “Patau syndrome” from The Free Dictionary is an excellent source. It also describes the genetic reasoning behind the condition, but goes into further detail about the diagnosis and pre-natal screenings that can be done before birth. There is a support group here in the United States called “SOFT” (Support Organization for Trisomy), which is a network of families and professional dedicated to providing support for families involved in the issues, diagnosis, and care in trisomy disorders, including trisomy 13. They work internationally with support groups in other countries and host events to raise awareness for those who are directly affected. Similar to SOFT, there’s an organization called Hope for Trisomy (Hauber), but it’s based in Florida and
Texas.